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Case ReportOpen Access

What Does We Know of Chromosome X Fragile

*Dra Mirta D’Ambra

DOI: 10.26717/BJSTR.2017.01.000280

  • Author Information Open or Close
    • Chairman of the World Academy of Medical Sciences, Buenos Aires University, Argentina, South America
    • Corresponding author: Dra Mirta D’Ambra, Chairman of the World Academy of Medical Sciences, Ministry of Health, Buenos Aires University Argentina, South America

Received: August 11, 2017;   Published: August 17, 2017

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Abstract

Chromosome X Fragile is the prevalent hereditary cause of intellectual disability. It is an inherited disease linked to the X chromosome, Fragile X syndrome (S X F). Its main clinical manifestation is intellectual disability and affects mainly males, with a prevalence of 1/4000 and females 1/6000. Women are the transmitters. The cause is a mutation on chromosome X9 27.3 and consists of an abnormal expansion of the trinucleotide citicin-guanine-guanine (CGG) in the FMR 1 gene (Fragile X Mental Retardation) in an area not coded at the beginning of the gene.

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